Canonical Allele Identifier: CA2678226910

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164870-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164872del , CM000668.2:g.33164872del	GRCh38
NC_000006.11:g.33132649del , CM000668.1:g.33132649del	GRCh37
NC_000006.10:g.33240627del	NCBI36
NG_011589.1:g.32598del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.650del
ENST00000341947.7:c.4844del MANE Select	ENSP00000339915.2:p.Pro1615LeufsTer?
ENST00000341947.6:c.4844del	ENSP00000339915.2:p.Pro1615LeufsTer?
ENST00000361917.5:c.4523del	ENSP00000355123.1:p.Pro1508LeufsTer?
ENST00000374708.8:c.4586del	ENSP00000363840.4:p.Pro1529LeufsTer?
ENST00000477772.1:n.634del
NM_080679.2:c.4523del	NP_542410.2:p.Pro1508LeufsTer?
NM_080680.2:c.4844del	NP_542411.2:p.Pro1615LeufsTer?
NM_080681.2:c.4586del	NP_542412.2:p.Pro1529LeufsTer?
XM_011514298.1:c.3998del	XP_011512600.1:p.Pro1333LeufsTer?
XM_011514299.1:c.4130del	XP_011512601.1:p.Pro1377LeufsTer?
XM_011514300.1:c.3950del	XP_011512602.1:p.Pro1317LeufsTer?
XM_011514301.1:c.3887del	XP_011512603.1:p.Pro1296LeufsTer?
XM_011514302.1:c.3731del	XP_011512604.1:p.Pro1244LeufsTer?
XM_011514299.2:c.4130del	XP_011512601.1:p.Pro1377LeufsTer?
XM_011514300.2:c.3950del	XP_011512602.1:p.Pro1317LeufsTer?
XM_011514302.2:c.3731del	XP_011512604.1:p.Pro1244LeufsTer?
XM_017010250.1:c.4844del	XP_016865739.1:p.Pro1615LeufsTer?
XM_017010251.2:c.3662del	XP_016865740.1:p.Pro1221LeufsTer?
NM_080680.3:c.4844del MANE Select	NP_542411.2:p.Pro1615LeufsTer?
NM_080681.3:c.4586del	NP_542412.2:p.Pro1529LeufsTer?
NM_080679.3:c.4523del	NP_542410.2:p.Pro1508LeufsTer?